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rs794728206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
Make rs794728206(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48485490
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728206
dbSNP (classic)rs794728206
ClinGenrs794728206
ebirs794728206
HLIrs794728206
Exacrs794728206
Gnomadrs794728206
Varsomers794728206
LitVarrs794728206
Maprs794728206
PheGenIrs794728206
Biobankrs794728206
1000 genomesrs794728206
hgdprs794728206
ensemblrs794728206
geneviewrs794728206
scholarrs794728206
googlers794728206
pharmgkbrs794728206
gwascentralrs794728206
openSNPrs794728206
23andMers794728206
SNPshotrs794728206
SNPdbers794728206
MSV3drs794728206
GWAS Ctlgrs794728206
Max Magnitude6.5
ClinVar
Risk rs794728206(G;G)
Alt rs794728206(G;G)
Reference Rs794728206(A;A)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48777687T>C
CLNSRC
CLNACC RCV000181491.2,